Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672818 | SCV000797962 | uncertain significance | Congenital hyperammonemia, type I | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672818 | SCV001225774 | pathogenic | Congenital hyperammonemia, type I | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 814 of the CPS1 protein (p.Arg814Trp). This variant is present in population databases (rs772782772, gnomAD 0.0009%). This missense change has been observed in individuals with CPS1 deficiency (PMID: 21120950, 22173106, 28526534; Invitae). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPS1 protein function. ClinVar contains an entry for this variant (Variation ID: 556766). |
Baylor Genetics | RCV003465519 | SCV004214535 | pathogenic | Pulmonary hypertension, neonatal, susceptibility to | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000672818 | SCV002076244 | likely pathogenic | Congenital hyperammonemia, type I | 2021-01-28 | no assertion criteria provided | clinical testing |